A typical case with apert syndrome Apert sendromlu tipik bir olgu
Goztepe Tip Dergisi, cilt.29, sa.2, ss.115-117, 2014 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 29 Sayı: 2
- Basım Tarihi: 2014
- Doi Numarası: 10.5222/j.goztepetrh.2014.115
- Dergi Adı: Goztepe Tip Dergisi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.115-117
- Anahtar Kelimeler: Apert, Arobrachycephaly, Craniosynostosis, Syndactyly
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
Apert syndrome is a disorder of acrocephalosyndactyly group, usually consisting of sporadic congenital disorder due to changes in FGFR2 gene. Typical features of syndrome are characterized with acrobrachycephaly, craniosynostosis, bony and/or cutaneous syndactyly of hands and toes. We presented a case with typical features of Apert Syndrome that has acrobrachycephaly, bilateral complete syndactyly and the P253R mutation in the FGFR2 gene as contribution to the literature.